NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)Rat Genome Database

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Variant : CV619854 (NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)) Homo sapiens

Symbol: CV619854
Name: NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)
RGD ID: 14689316
Condition: Ebstein anomaly of the tricuspid valve [RCV000778069]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 05/16/2019
Review Status: criteria provided, single submitter
Related Genes: CDK8  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: research
HGVS Name(s): NM_001260.3:c.185C>A
NC_000013.11:g.26337623C>A
NC_000013.10:g.26911760C>A
NP_001251.1:p.Ser62Ter
NM_001346501.2:c.-277C>A
NM_001318368.2:c.185C>A
NP_001305297.1:p.Ser62Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381326,337,623 - 26,337,623CLINVAR
GRCh371326,911,760 - 26,911,760CLINVAR
Cytogenetic Map1313q12.13CLINVAR
Trait Synonyms: Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the face; Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Agenesis of hemidiaphragm; Cardiac abnormality; Cardiac anomalies; Cerebral ventricular dilatation; Common atrium; Congenital diaphragmatic defect; Congenital diaphragmatic hernia; congenital heart defect; Craniofacial dysmorphism; Deformity of face; Diaphragmatic hernia; DIH; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Distinctive facies; Distortion of face; Dysmorphic facial features; Dysmorphic facies; Ebstein anomaly; Ebstein anomaly (disease); Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve; Ebstein's malformation; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Fetal death; Funny looking face; Heart, malformation of; Large cerebral ventricles and cisternae; Malformation of face; Single atrium; Stillbirth; Stillborn; Unilateral agenesis of diaphragm; Unusual facial appearance; Unusual facies; Ventricular dilatation; Ventriculomegaly



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778069 CLINVAR
dbSNP (RS) rs1565977796 CLINVAR
MedGen C0013481 CLINVAR
NCBI Gene CDK8 CLINVAR
OMIM 140500 CLINVAR
  142340 CLINVAR
  224700 CLINVAR
  234750 CLINVAR
  603184 CLINVAR